Incidental Mutation 'R5551:Ets2'
ID 435154
Institutional Source Beutler Lab
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene Name E26 avian leukemia oncogene 2, 3' domain
Synonyms Ets-2
MMRRC Submission 043108-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 95503274-95522093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95513165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 114 (W114R)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612] [ENSMUST00000155226]
AlphaFold P15037
Predicted Effect probably damaging
Transcript: ENSMUST00000023612
AA Change: W114R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: W114R

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
ETS 361 446 8.49e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145509
Predicted Effect probably damaging
Transcript: ENSMUST00000155226
AA Change: W114R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116638
Gene: ENSMUSG00000022895
AA Change: W114R

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Acox1 A G 11: 116,080,317 (GRCm39) S29P possibly damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nat8f1 T C 6: 85,887,891 (GRCm39) D23G probably damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smad5 T C 13: 56,883,654 (GRCm39) C347R probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tars1 G A 15: 11,392,068 (GRCm39) T248M probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Uqcrc2 C T 7: 120,244,461 (GRCm39) T201I probably damaging Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R probably benign Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95,513,185 (GRCm39) missense probably benign 0.01
IGL00843:Ets2 APN 16 95,510,837 (GRCm39) missense probably benign 0.03
IGL01911:Ets2 APN 16 95,512,802 (GRCm39) missense probably damaging 1.00
R0257:Ets2 UTSW 16 95,513,245 (GRCm39) nonsense probably null
R0317:Ets2 UTSW 16 95,513,193 (GRCm39) missense probably damaging 1.00
R0398:Ets2 UTSW 16 95,517,267 (GRCm39) missense probably damaging 1.00
R0478:Ets2 UTSW 16 95,517,306 (GRCm39) missense probably damaging 1.00
R0634:Ets2 UTSW 16 95,517,200 (GRCm39) missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95,510,913 (GRCm39) missense probably damaging 1.00
R1868:Ets2 UTSW 16 95,516,118 (GRCm39) missense probably benign 0.00
R2120:Ets2 UTSW 16 95,519,977 (GRCm39) missense probably benign 0.17
R3037:Ets2 UTSW 16 95,517,109 (GRCm39) missense probably benign 0.19
R3915:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R4086:Ets2 UTSW 16 95,510,833 (GRCm39) missense probably damaging 1.00
R4609:Ets2 UTSW 16 95,512,818 (GRCm39) missense probably benign 0.03
R4760:Ets2 UTSW 16 95,520,087 (GRCm39) missense probably damaging 1.00
R5245:Ets2 UTSW 16 95,513,304 (GRCm39) nonsense probably null
R6057:Ets2 UTSW 16 95,515,416 (GRCm39) missense probably benign 0.00
R6376:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R7545:Ets2 UTSW 16 95,516,127 (GRCm39) missense probably benign 0.45
R7905:Ets2 UTSW 16 95,507,304 (GRCm39) missense probably damaging 0.97
R8013:Ets2 UTSW 16 95,517,144 (GRCm39) missense probably damaging 1.00
R8297:Ets2 UTSW 16 95,507,321 (GRCm39) missense probably damaging 1.00
R8482:Ets2 UTSW 16 95,516,019 (GRCm39) missense probably benign 0.00
R9489:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
R9605:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAACATGCCTGTGTCACAGC -3'
(R):5'- AATGGACTCTACCACTGGGC -3'

Sequencing Primer
(F):5'- TCACAGCAGGCTCGTGTCTTG -3'
(R):5'- ACTGGGCAGCCTGAGGTAG -3'
Posted On 2016-10-24